Canonical Allele Identifier: CA523273494
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2165193
ClinVar RCV Id: RCV003084242
dbSNP Id: rs1215020674

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210464del , CM000663.2:g.53210464del GRCh38
NC_000001.10:g.53676136del , CM000663.1:g.53676136del GRCh37
NC_000001.9:g.53448724del NCBI36
NG_008035.1:g.19036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.790del MANE Select ENSP00000360541.3:p.Val264Ter
ENST00000635862.1:c.790del ENSP00000490867.1:p.Val264Ter
ENST00000635888.1:c.*776del ENSP00000490042.1:n.*776del
ENST00000636239.1:c.*437del ENSP00000490066.1:n.*437del
ENST00000636867.1:c.790del ENSP00000489631.1:p.Val264Ter
ENST00000636891.1:c.790del ENSP00000490399.1:p.Val264Ter
ENST00000636935.1:c.341-2800del ENSP00000489757.1:n.341-2800del
ENST00000637252.1:c.790del ENSP00000490492.1:p.Val264Ter
ENST00000637726.1:n.2990del
ENST00000638135.1:c.*437del ENSP00000489756.1:n.*437del
ENST00000371486.3:c.790del ENSP00000360541.3:p.Val264Ter
NM_000098.2:c.790del NP_000089.1:p.Val264Ter
XM_005270484.1:c.790del XP_005270541.1:p.Val264Ter
NM_001330589.1:c.790del NP_001317518.1:p.Val264Ter
NM_000098.3:c.790del MANE Select NP_000089.1:p.Val264Ter
NM_001330589.2:c.790del NP_001317518.1:p.Val264Ter